Variant report

Variant	rs761944
Chromosome Location	chr14:69051900-69051901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69043150..69045216-chr14:69050685..69052900,2	MCF-7	breast:
2	chr14:69050025..69052372-chr14:69251168..69253724,2	MCF-7	breast:
3	chr14:69047861..69051902-chr14:69052585..69055305,4	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4902602	0.87[CEU][hapmap];0.80[TSI][hapmap]
rs8017001	0.87[CEU][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs761944	SGPP1	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:69044600-69052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:69045000-69053200	Weak transcription	Gastric	stomach
8	chr14:69045200-69052200	Weak transcription	Stomach Mucosa	stomach
9	chr14:69045800-69053800	Weak transcription	Right Atrium	heart
10	chr14:69046200-69053000	Weak transcription	Hela-S3	cervix
11	chr14:69047200-69052000	Weak transcription	NH-A	brain
12	chr14:69047200-69052200	Weak transcription	HUVEC	blood vessel
13	chr14:69047400-69052200	Weak transcription	NHLF	lung
14	chr14:69047400-69052400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:69047400-69054000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:69047400-69060200	Weak transcription	Spleen	Spleen
17	chr14:69047600-69052000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:69047600-69052200	Weak transcription	Fetal Intestine Small	intestine
19	chr14:69048000-69052200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:69048200-69052200	Weak transcription	HSMM	muscle
21	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
22	chr14:69050200-69052400	Enhancers	Psoas Muscle	Psoas
23	chr14:69050200-69052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:69050200-69053000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:69050200-69055000	Enhancers	Esophagus	oesophagus
26	chr14:69050200-69058800	Enhancers	Fetal Muscle Trunk	muscle
27	chr14:69050200-69058800	Enhancers	Placenta	Placenta
28	chr14:69050400-69052000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:69050400-69052000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:69050400-69052000	Enhancers	Fetal Heart	heart
31	chr14:69050800-69052200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:69050800-69052200	Enhancers	Right Ventricle	heart
33	chr14:69050800-69052200	Weak transcription	HepG2	liver
34	chr14:69050800-69052600	Weak transcription	Ovary	ovary
35	chr14:69051000-69052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:69051000-69052000	Weak transcription	Fetal Lung	lung
37	chr14:69051000-69052600	Enhancers	NHEK	skin
38	chr14:69051000-69053400	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:69051000-69053800	Weak transcription	A549	lung
40	chr14:69051000-69055800	Enhancers	Fetal Thymus	thymus
41	chr14:69051000-69057000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:69051000-69057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:69051200-69052000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:69051200-69052000	Enhancers	Brain Germinal Matrix	brain
45	chr14:69051200-69052200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:69051200-69052600	Weak transcription	Adipose Nuclei	Adipose
47	chr14:69051200-69052800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:69051200-69058200	Enhancers	NHDF-Ad	bronchial
49	chr14:69051200-69061800	Enhancers	Fetal Stomach	stomach
50	chr14:69051400-69052400	Weak transcription	Lung	lung

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